Canonical Allele Identifier: CA2739336894

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94327992A>G , CM000672.2:g.94327992A>G GRCh38
NC_000010.10:g.96087749A>G , CM000672.1:g.96087749A>G GRCh37
NC_000010.9:g.96077739A>G NCBI36
NG_015799.1:g.339004A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.8897A>G (PLCE1) ENSP00000360426.1:n.8897A>G
ENST00000688810.1:c.5986A>G (PLCE1) ENSP00000509140.1:n.5986A>G
ENST00000690340.1:n.4602A>G (PLCE1)
ENST00000692396.1:c.*49A>G (PLCE1) ENSP00000508605.1:n.*49A>G
ENST00000371380.8:c.*49A>G (PLCE1) MANE Select ENSP00000360431.2:n.*49A>G
ENST00000371385.8:c.*49A>G (PLCE1) ENSP00000360438.4:n.*49A>G
ENST00000675218.1:c.6034A>G (PLCE1) ENSP00000501910.1:n.6034A>G
ENST00000675487.1:c.*2891A>G (PLCE1) ENSP00000502340.1:n.*2891A>G
ENST00000260766.7:c.*49A>G (PLCE1) ENSP00000260766.3:n.*49A>G
ENST00000371380.7:c.*49A>G (PLCE1) ENSP00000360431.2:n.*49A>G
ENST00000371385.7:c.*49A>G (PLCE1) ENSP00000360438.3:n.*49A>G
NM_001165979.2:c.*49A>G (PLCE1) NP_001159451.1:n.*49A>G
NM_001288989.1:c.*49A>G (PLCE1) NP_001275918.1:n.*49A>G
NM_016341.3:c.*49A>G (PLCE1) NP_057425.3:n.*49A>G
XM_006717885.2:c.*49A>G (PLCE1) XP_006717948.1:n.*49A>G
XM_006717888.2:c.*49A>G (PLCE1) XP_006717951.1:n.*49A>G
XM_006717889.2:c.*49A>G (PLCE1) XP_006717952.1:n.*49A>G
XM_006717890.1:c.*49A>G (PLCE1) XP_006717953.1:n.*49A>G
XM_011539849.1:c.*49A>G (PLCE1) XP_011538151.1:n.*49A>G
XM_011539850.1:c.*49A>G (PLCE1) XP_011538152.1:n.*49A>G
XR_945799.1:n.3310+5398T>C (NOC3L)
XM_006717885.4:c.*49A>G (PLCE1) XP_006717948.1:n.*49A>G
XM_006717888.4:c.*49A>G (PLCE1) XP_006717951.1:n.*49A>G
XM_006717889.4:c.*49A>G (PLCE1) XP_006717952.1:n.*49A>G
XM_006717890.3:c.*49A>G (PLCE1) XP_006717953.1:n.*49A>G
XM_011539849.3:c.*49A>G (PLCE1) XP_011538151.1:n.*49A>G
XM_011539850.3:c.*49A>G (PLCE1) XP_011538152.1:n.*49A>G
XM_017016310.2:c.*49A>G (PLCE1) XP_016871799.1:n.*49A>G
XM_017016312.2:c.*49A>G (PLCE1) XP_016871801.1:n.*49A>G
XR_002957007.1:n.3311+5398T>C (NOC3L)
NM_001288989.2:c.*49A>G (PLCE1) NP_001275918.1:n.*49A>G
NM_016341.4:c.*49A>G (PLCE1) MANE Select NP_057425.3:n.*49A>G